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rs111033636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033636(A;A)
Make rs111033636(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646786
GeneGALT
is asnp
is mentioned by
dbSNPrs111033636
ebirs111033636
HLIrs111033636
Exacrs111033636
Varsomers111033636
Maprs111033636
PheGenIrs111033636
hapmaprs111033636
1000 genomesrs111033636
hgdprs111033636
ensemblrs111033636
gopubmedrs111033636
geneviewrs111033636
scholarrs111033636
googlers111033636
pharmgkbrs111033636
gwascentralrs111033636
openSNPrs111033636
23andMers111033636
23andMe allrs111033636
SNP Nexus

SNPshotrs111033636
SNPdbers111033636
MSV3drs111033636
GWAS Ctlgrs111033636
Max Magnitude0
ClinVar
Risk rs111033636(A,C,T;A,C,T)
Alt rs111033636(A,C,T;A,C,T)
Reference rs111033636(G;G)
Significance Other
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34646783G>A; NC_000009.11:g.34646783G>C; NC_000009.11:g.34646783G>T
CLNSRC ARUP GALT
CLNACC RCV000031852.3, RCV000022047.1, RCV000022046.1,


[PMID 17041746] Mutational spectrum of classical galactosaemia in Spain and Portugal.